Variant Synonymizer: Platform to identify mutations defined in different ways is available now!

VarSy

Over 2,000 gene–disease validation summaries are now available—no login required!

Browse Summaries

Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
Back to Open Access Summaries

Gene–Disease Browser

Need updated, customized, evidence‑backed summaries? Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
Contact us
Gene Disease Score Actions
KRT5
(HGNC:6442)
Dowling-Degos disease
(MONDO_0008371)
 Strong
KRT5
(HGNC:6442)
epidermolysis bullosa simplex 2F, with mottled pigmentation
(MONDO_0007556)
 Strong
KRT3
(HGNC:6440)
Meesmann corneal dystrophy
(MONDO_0007379)
 Moderate
KRT18
(HGNC:6430)
cirrhosis, familial
(MONDO_0007329)
 Limited
KRT17
(HGNC:6427)
sebocystomatosis
(MONDO_0008485)
 Moderate
KRT17
(HGNC:6427)
pachyonychia congenita 2
(MONDO_0008174)
 Strong
KRT16
(HGNC:6423)
pachyonychia congenita 1
(MONDO_0008173)
 Strong
KRT14
(HGNC:6416)
Naegeli-Franceschetti-Jadassohn syndrome
(MONDO_0008059)
 Strong
KRT14
(HGNC:6416)
epidermolysis bullosa simplex 1A, generalized severe
(MONDO_0007550)
 Strong
KRT14
(HGNC:6416)
epidermolysis bullosa simplex 2F, with mottled pigmentation
(MONDO_0007556)
 Refuted
KRT14
(HGNC:6416)
dermatopathia pigmentosa reticularis
(MONDO_0007445)
 Strong
KRT10
(HGNC:6413)
autosomal recessive epidermolytic ichthyosis
(MONDO_0044742)
 Moderate
KRT10
(HGNC:6413)
annular epidermolytic ichthyosis
(MONDO_0011870)
 Moderate
KRT10
(HGNC:6413)
congenital reticular ichthyosiform erythroderma
(MONDO_0012208)
 Strong
KRT1
(HGNC:6412)
striate palmoplantar keratoderma
(MONDO_0018865)
 Moderate
KRT1
(HGNC:6412)
congenital reticular ichthyosiform erythroderma
(MONDO_0012208)
 Limited
KRT1
(HGNC:6412)
diffuse nonepidermolytic palmoplantar keratoderma
(MONDO_0010962)
 Limited
KRT1
(HGNC:6412)
annular epidermolytic ichthyosis
(MONDO_0011870)
 Moderate
KRT1
(HGNC:6412)
ichthyosis hystrix of Curth-Macklin
(MONDO_0007808)
 Limited
MAFB
(HGNC:6408)
Duane retraction syndrome
(MONDO_0007473)
 Moderate
Showing 1021–1040 of 6681